Question: hi laura, when researching human genetics what kind of things do you look for to suggest that something is a new discovery, or isnt ordinary?

Laura Knight answered on 15 Nov 2021:

Hi, we know the gene sequence that encodes the normal protein, so we can do sequencing of samples and identify any differences between what we know the sequence should be, and the sequence of the sample. These differences are called mutations. By sequencing many samples from the same disease, we can identify if there is one mutation that appears often, and this would suggest it is involved in the disease progression somehow. To check if it’s a new discovery, we would search published literature and see if it has come up before.